Werner's syndrome may have nothing to do with normal aging

From: Doug Skrecky (oberon@vcn.bc.ca)
Date: Fri Jul 21 2000 - 06:15:30 MDT


Institution
  Department of Pathology, University of Washington, Seattle 98195, USA.
Title
  Polymorphisms at the
  Werner locus: I. Newly identified
  polymorphisms, ethnic variability of 1367Cy/Arg, and its
  stability in a population of Finnish centenarians.
Source
  American Journal of Medical Genetics. 82(5):399-403, 1999 Feb 19.
Abstract
  The Werner syndrome gene (WRN) encodes a
  novel helicase of 1,432 amino acids. Homozygous mutations, all of which
  result in the truncation of the protein,
  lead to Werner syndrome. However, little is known about
  the role of WRN in "normal" aging. We have identified four
  missense polymorphisms and four conservative polymorphsims
  in WRN gene. A single study showed that a polymorphism at amino acid 1367
  Cys(TTG)/ Arg(CTG) is associated with a variation in risk of myocardial
  infarction among a Japanese population. The 1367 Cys/Arg
  polymorphism was examined during aging in three different populations:
  Finnish, Mexican, and North American. The frequencies of
  1367 Cys were higher than those of 1367 Arg in all the
  populations examined, though the frequencies varied among
  populations. The frequency of the 1367 Arg
  allele, thought to be protective against myocardial infarction in a Japanese
  population, was approximately three times higher in the
  North American and Finnish adult populations. When newborns and centenarians
  were compared within the Finnish population, no differences
  were observed in the proportions of 1367 Cys/Arg across age
  groups. Within the Finnish population, we confirmed a
  significant decrease of the APOE epsilon2 allele and an
  increase in the epsilon4 allele in newborn infants compared
  with centenarians. Thus, unlike the APOE polymorphism,
  there is no evidence of an association of this WRN
  polymorphism with longevity.



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